Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HHAT_chr1_210323902_210681290	210326926	C C	CATATATA others(13): Show CATATATATACATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03540.hp1 NA21309.hp2 HG02647.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0007g0070 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0007g0070	3	268	0.0112	20	c.-22 others(31): Show c.-2222_-2221insATATATATACATATATATAT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1975		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATACA others(13): Show TATATACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG03540.hp2 others(1): Show HG01891.hp1 HG03453.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 a0001c0002t0001 a0001c0002t0008 a0001c0002t0012	a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0008g0126 others(1): Show a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0008g0126 a0001c0002t0012g0123	4	268	0.0149	20	c.-21 others(31): Show c.-2190_-2189insATATACACACACACACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(13): Show TATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	268	0.0037	20	c.-21 others(31): Show c.-2190_-2189insATATATATATATATATACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(13): Show TATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02071.hp1 HG02080.hp2 others(7): Show HG01934.hp2 HG02071.hp1 HG02080.hp2 HG02280.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG06807.hp2 NA18955.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0004 a0004c0005t0001	a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0224 others(7): Show a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0224 a0001c0001t0002g0219 a0001c0001t0004g0220 a0001c0001t0004g0225 a0001c0001t0007g0188 a0001c0001t0007g0191 a0001c0002t0004g0199 a0004c0005t0001g0010	10	268	0.0373	20	c.-21 others(31): Show c.-2190_-2189insATATATATATATATATATAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00558.hp2 others(16): Show HG00099.hp2 HG00280.hp1 HG00558.hp2 HG01074.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG02074.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG03017.hp2 HG03453.hp1 HG04199.hp2 NA18951.hp1 NA18969.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0024	a0001c0001t0001g0248 a0001c0001t0003g0244 a0001c0002t0002g0080 others(16): Show a0001c0001t0001g0248 a0001c0001t0003g0244 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0003g0227 a0001c0002t0003g0245 a0001c0002t0004g0127 a0001c0002t0008g0126 a0002c0003t0001g0237 a0002c0003t0002g0247 a0002c0003t0003g0236 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0240 a0002c0003t0003g0241 a0002c0003t0004g0235 a0002c0003t0004g0242 a0002c0003t0004g0243 a0002c0003t0024g0246	19	268	0.0709	20	c.-44 others(37): Show c.-44+5075_-44+5094dupTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210336287	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 HG04184.hp2 others(3): Show HG00099.hp1 HG01261.hp2 HG04184.hp2 NA18965.hp1 NA18973.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0099 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0099 a0001c0001t0001g0150 a0001c0001t0003g0100 a0001c0001t0004g0115 a0002c0003t0001g0121	6	268	0.0224	20	c.-44 others(37): Show c.-44+7187_-44+7206dupTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210386230	C C	CTTTCTTT others(13): Show CTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01258.hp2 HG01261.hp2 others(5): Show HG00438.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01517.hp1 HG03209.hp2 NA19065.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0025 a0001c0001t0001g0090 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0025 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0248 a0001c0001t0003g0100 a0001c0001t0004g0148 a0001c0001t0005g0208 a0001c0001t0006g0114	8	268	0.0299	20	c.160 others(37): Show c.160-1235_160-1234insCTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210386230	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0161 a0001c0001t0009g0161	1	268	0.0037	20	c.160 others(37): Show c.160-1231_160-1212dupTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210494542	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	268	0.0037	20	c.100 others(41): Show c.1008-18603_1008-18584dupTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210535431	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	268	0.0037	20	c.104 others(41): Show c.1043+22248_1043+22267dupTGTGTGTGTGTGTGTGTGTG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210569373	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	268	0.0037	20	c.104 others(41): Show c.1044-18518_1044-18499dupAAAAAAAAAAAAAAAAAAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210601937	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03669.hp2 HG01433.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0254 a0001c0001t0001g0106 a0001c0001t0003g0254	2	268	0.0075	20	c.124 others(41): Show c.1245+13839_1245+13858dupAGAGAGAGAGAGAGAGAGAG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210643911	A A	ATTTTATG others(13): Show ATTTTATGGAGAAATTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00741.hp2 others(18): Show HG00280.hp2 HG00408.hp2 HG00741.hp2 HG01433.hp1 HG01884.hp1 HG01975.hp1 HG02145.hp1 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03688.hp2 HG04204.hp2 NA18952.hp2 NA18961.hp2 NA18965.hp2 NA19005.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0003c0007 a0005c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0002t0003 a0001c0015t0003 a0003c0007t0002 a0005c0008t0003	a0001c0001t0002g0116 a0001c0001t0003g0091 a0001c0001t0003g0146 others(18): Show a0001c0001t0002g0116 a0001c0001t0003g0091 a0001c0001t0003g0146 a0001c0001t0003g0181 a0001c0001t0003g0254 a0001c0001t0006g0114 a0001c0001t0007g0070 a0001c0001t0007g0074 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0191 a0001c0001t0007g0201 a0001c0001t0010g0009 a0001c0001t0010g0067 a0001c0001t0010g0196 a0001c0002t0003g0034 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0015t0003g0020 a0003c0007t0002g0169 a0005c0008t0003g0253	21	268	0.0784	20	c.139 others(41): Show c.1390+20246_1390+20265dupATGGAGAAATTTCTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99653329	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	374	0.0027	20	c.902 others(35): Show c.902+478_902+479insGTTTTGTTTTGTTTTGTTTT	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99660125	C C	CCACGCCA others(13): Show CCACGCCAGCCCTGCTGTGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02486.hp2 others(3): Show HG01891.hp1 HG02451.hp2 HG02486.hp2 HG02976.hp2 HG03130.hp1 HG03471.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0001 a0006c0012 a0001c0002 a0002c0001 a0006c0012	a0001c0002t0020 a0002c0001t0001 a0002c0001t0005 others(1): Show a0001c0002t0020 a0002c0001t0001 a0002c0001t0005 a0006c0012t0001	a0001c0002t0020g0232 a0002c0001t0001g0160 a0002c0001t0005g0157 others(3): Show a0001c0002t0020g0232 a0002c0001t0001g0160 a0002c0001t0005g0157 a0002c0001t0005g0164 a0002c0001t0005g0165 a0006c0012t0001g0159	6	374	0.0160	20	c.137 others(37): Show c.1376-128_1376-109dupAGCCCTGCTGTGGGCACGCC	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99661421	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp2 others(69): Show HG00140.hp1 HG00423.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18955.hp1 NA18967.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18999.hp2 NA19012.hp1 NA19060.hp2 NA19064.hp2 NA19081.hp1 NA19240.hp1 NA20129.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0006	a0000c0014 a0001c0002 a0001c0003 others(4): Show a0000c0014 a0001c0002 a0001c0003 a0001c0017 a0002c0001 a0002c0004 a0006c0012	a0000c0014t0023 a0001c0002t0002 a0001c0002t0003 others(13): Show a0000c0014t0023 a0001c0002t0002 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0030 a0001c0017t0002 a0002c0001t0001 a0002c0001t0005 a0002c0001t0010 a0002c0001t0024 a0002c0001t0025 a0002c0004t0001 a0006c0012t0001	a0000c0014t0023g0007 a0001c0002t0002g0005 a0001c0002t0002g0035 others(67): Show a0000c0014t0023g0007 a0001c0002t0002g0005 a0001c0002t0002g0035 a0001c0002t0002g0049 a0001c0002t0002g0072 a0001c0002t0002g0081 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0156 a0001c0002t0002g0196 a0001c0002t0002g0205 a0001c0002t0003g0008 a0001c0002t0003g0023 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0044 a0001c0002t0003g0048 a0001c0002t0003g0053 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0185 a0001c0002t0003g0190 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0202 a0001c0002t0003g0206 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0029g0207 a0001c0003t0001g0015 a0001c0003t0002g0006 a0001c0003t0002g0085 a0001c0003t0002g0087 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0132 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0320 a0001c0003t0002g0332 a0001c0003t0002g0336 a0001c0003t0002g0341 a0001c0003t0002g0345 a0001c0003t0002g0346 a0001c0003t0002g0347 a0001c0003t0002g0348 a0001c0003t0002g0351 a0001c0003t0002g0354 a0001c0003t0004g0138 a0001c0003t0030g0089 a0001c0017t0002g0005 a0002c0001t0001g0043 a0002c0001t0001g0161 a0002c0001t0001g0167 a0002c0001t0001g0173 a0002c0001t0005g0007 a0002c0001t0005g0157 a0002c0001t0010g0062 a0002c0001t0010g0063 a0002c0001t0024g0210 a0002c0001t0025g0121 a0002c0004t0001g0325 a0006c0012t0001g0159	72	374	0.1925	20	c.150 others(39): Show c.1502+1026_1502+1045dupAGGAAGGAAGGAAGGAAGGA	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL2_chr1_222517264_222553104	222546047	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(226): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0012 a0013	a0001c0001 a0001c0003 a0002c0004 others(13): Show a0001c0001 a0001c0003 a0002c0004 a0002c0005 a0002c0011 a0002c0023 a0003c0002 a0003c0007 a0003c0015 a0003c0019 a0004c0006 a0004c0009 a0005c0008 a0008c0013 a0012c0017 a0013c0016	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 others(14): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0005t0003 a0002c0011t0001 a0002c0023t0001 a0003c0002t0001 a0003c0007t0001 a0003c0015t0001 a0003c0019t0001 a0004c0006t0001 a0004c0009t0001 a0005c0008t0001 a0008c0013t0001 a0012c0017t0001 a0013c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(160): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0003t0001g0041 a0001c0003t0001g0220 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0002c0004t0001g0011 a0002c0004t0001g0013 a0002c0004t0001g0047 a0002c0004t0001g0060 a0002c0004t0001g0063 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0068 a0002c0004t0001g0069 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0183 a0002c0005t0001g0039 a0002c0005t0001g0040 a0002c0005t0001g0218 a0002c0005t0001g0219 a0002c0005t0001g0249 a0002c0005t0001g0277 a0002c0005t0001g0278 a0002c0005t0001g0283 a0002c0005t0001g0284 a0002c0005t0001g0285 a0002c0005t0001g0286 a0002c0005t0001g0287 a0002c0005t0001g0288 a0002c0005t0001g0299 a0002c0005t0003g0217 a0002c0011t0001g0187 a0002c0023t0001g0279 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0010 a0003c0002t0001g0012 a0003c0002t0001g0021 a0003c0002t0001g0025 a0003c0002t0001g0061 a0003c0002t0001g0062 a0003c0002t0001g0078 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0081 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0085 a0003c0002t0001g0086 a0003c0002t0001g0087 a0003c0002t0001g0088 a0003c0002t0001g0089 a0003c0002t0001g0090 a0003c0002t0001g0091 a0003c0002t0001g0092 a0003c0002t0001g0093 a0003c0002t0001g0106 a0003c0007t0001g0245 a0003c0007t0001g0246 a0003c0007t0001g0247 a0003c0007t0001g0248 a0003c0007t0001g0262 a0003c0015t0001g0137 a0003c0019t0001g0102 a0004c0006t0001g0006 a0004c0006t0001g0019 a0004c0006t0001g0037 a0004c0006t0001g0038 a0004c0006t0001g0191 a0004c0006t0001g0255 a0004c0006t0001g0263 a0004c0006t0001g0264 a0004c0006t0001g0265 a0004c0006t0001g0266 a0004c0006t0001g0267 a0004c0006t0001g0289 a0004c0006t0001g0298 a0004c0006t0001g0300 a0004c0009t0001g0024 a0004c0009t0001g0032 a0004c0009t0001g0046 a0004c0009t0001g0140 a0005c0008t0001g0042 a0005c0008t0001g0188 a0005c0008t0001g0189 a0005c0008t0001g0258 a0005c0008t0001g0259 a0005c0008t0001g0260 a0005c0008t0001g0261 a0005c0008t0001g0282 a0008c0013t0001g0043 a0012c0017t0001g0184 a0013c0016t0001g0124	229	418	0.5479	20	c.321 others(37): Show c.321+1657_321+1676dupATTTATTTATTTATTTATTT	HHIPL2	ENSG00000143512.13	transcript	ENST00000343410.7	protein_coding	1/8			chr1	TogoVar
HHIPL2_chr1_222517264_222553104	222550921	C C	CATAGATA others(13): Show CATAGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0037 a0004c0006t0001g0037	1	418	0.0024	20	c.-28 others(31): Show c.-2878_-2877insCTATCTATCTATCTATCTAT	HHIPL2	ENSG00000143512.13	transcript	ENST00000343410.7	protein_coding		2818		chr1	TogoVar
HHIP_chr4_144641156_144750271	144645107	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01975.hp2 HG02071.hp2 others(2): Show HG01168.hp2 HG01975.hp2 HG02071.hp2 HG02622.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0151 a0001c0001t0003g0166 a0001c0001t0003g0204 others(2): Show a0001c0001t0003g0151 a0001c0001t0003g0166 a0001c0001t0003g0204 a0001c0001t0005g0219 a0001c0001t0005g0222	5	316	0.0158	20	c.-15 others(31): Show c.-1569_-1568insGTGTGTGTGTGTGTGTGTGT	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding		1048		chr4	TogoVar
HHLA1_chr8_132056480_132116157	132070011	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01993.hp2 HG02572.hp2 others(1): Show HG00733.hp2 HG01993.hp2 HG02572.hp2 HG02717.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0006 a0001c0001 a0003c0002 a0004c0006	a0001c0001t0003 a0003c0002t0001 a0004c0006t0001 a0001c0001t0003 a0003c0002t0001 a0004c0006t0001	a0001c0001t0003g0098 a0003c0002t0001g0242 a0004c0006t0001g0094 others(1): Show a0001c0001t0003g0098 a0003c0002t0001g0242 a0004c0006t0001g0094 a0004c0006t0001g0291	4	380	0.0105	20	c.146 others(39): Show c.1469+1328_1469+1329insCCCCCCCCCCCCCCCCCCCC	HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	15/16			chr8	TogoVar
HHLA2_chr3_108291548_108383285	108321091	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0054 a0004c0006t0005g0054	1	322	0.0031	20	c.-27 others(39): Show c.-27+10352_-27+10371dupAAAAAAAAAAAAAAAAAAAA	HHLA2	ENSG00000114455.15	transcript	ENST00000467761.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
HIBADH_chr7_27520442_27667883	27638308	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp1 HG02451.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	326	0.0061	20	c.253 others(37): Show c.253-5883_253-5864dupTTTTTTTTTTTTTTTTTTTT	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27645382	T T	TGTTTGTT others(13): Show TGTTTGTTTGTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG03453.hp1 HG02559.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018	3	326	0.0092	20	c.252 others(37): Show c.252+4090_252+4091insCAAAAACAAAACAAACAAAC	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27645382	T T	TTTTTGTT others(13): Show TTTTTGTTTGTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02451.hp2 others(7): Show HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG03139.hp1 HG03516.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0040	10	326	0.0307	20	c.252 others(37): Show c.252+4090_252+4091insCAAAAACAAAACAAACAAAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIBCH_chr2_190198920_190324826	190259319	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18747.hp2 HG00673.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0320 a0001c0001t0004g0337 a0001c0001t0004g0320 a0001c0001t0004g0337	2	368	0.0054	20	c.517 others(37): Show c.517+1817_517+1836dupCACACACACACACACACACA	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	7/13			chr2	TogoVar
HIBCH_chr2_190198920_190324826	190287027	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0075 a0003c0003t0003g0075	1	368	0.0027	20	c.438 others(35): Show c.438+539_438+558dupACACACACACACACACACAC	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	6/13			chr2	TogoVar
HIBCH_chr2_190198920_190324826	190287058	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0050 a0003c0003t0003g0050	1	368	0.0027	20	c.438 others(35): Show c.438+527_438+528insTACACACACACACACACACA	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	6/13			chr2	TogoVar
HIC1_chr17_2050103_2068241	2066652	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01517.hp2 NA18942.hp1 HG01192.hp2 HG01517.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0027 a0001c0002t0001 a0001c0001t0018 a0001c0001t0027 a0001c0002t0001	a0001c0001t0018g0001 a0001c0001t0027g0001 a0001c0002t0001g0001 a0001c0001t0018g0001 a0001c0001t0027g0001 a0001c0002t0001g0001	3	414	0.0073	20	c.78 others(31): Show c.7817_*7818insACACACACACACACACACAC	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		3412		chr17	TogoVar
HIF1AN_chr10_100530943_100564998	100563333	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	320	0.0031	20	c.15 others(33): Show c.15196_*15197insTCTGTGTGTGTGTGTGTGTG	HIF1AN	ENSG00000166135.14	transcript	ENST00000299163.7	protein_coding		3336		chr10	TogoVar
HIF1AN_chr10_100530943_100564998	100563333	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02083.hp1 HG02723.hp2 others(1): Show HG02055.hp1 HG02083.hp1 HG02723.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0002c0003t0001g0001 a0001c0001t0001g0001 a0002c0003t0001g0001	4	320	0.0125	20	c.15 others(33): Show c.15196_*15197insTGTGTGTGTGTGTGTGTGTG	HIF1AN	ENSG00000166135.14	transcript	ENST00000299163.7	protein_coding		3336		chr10	TogoVar
HIF1A_chr14_61690513_61753258	61724349	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01496.hp1 NA18942.hp1 others(4): Show HG00544.hp1 HG01496.hp1 NA18942.hp1 NA18955.hp1 NA18995.hp2 NA19012.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0168 a0001c0001t0001g0169 others(4): Show a0001c0001t0001g0136 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0240	7	322	0.0217	20	c.458 others(37): Show c.458-2344_458-2325dupTCTCTCTCTCTCTCTCTCTC	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
HIF3A_chr19_46292042_46348433	46293851	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0058 a0001c0017t0001g0058	1	418	0.0024	20	c.-32 others(31): Show c.-3226_-3225insAAAAAAAAAAAAAAAAAAAA	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding		3190		chr19	TogoVar
HIF3A_chr19_46292042_46348433	46335247	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0160 a0002c0004t0004g0160	1	418	0.0024	20	c.191 others(37): Show c.1912+278_1912+297dupATTTATTTATTTATTTATTT	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIGD1A_chr3_42777908_42809490	42787594	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	400	0.0025	20	c.98- others(35): Show c.98-1452_98-1433dupATATATATATATATATATAT	HIGD1A	ENSG00000181061.14	transcript	ENST00000321331.12	protein_coding	2/3			chr3	TogoVar
HIGD1C_chr12_50947544_50975607	50951860	T T	TTTGAACC others(13): Show TTTGAACCAAGGGATCAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	380	0.0026	20	c.-91 others(29): Show c.-919_-918insTTGAACCAAGGGATCAGAGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		683		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50957937	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	380	0.0026	20	c.95- others(35): Show c.95-3002_95-2983dupGTGTGTGTGTGTGTGTGTGT	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HIGD2A_chr5_176383751_176394761	176390438	G G	GGTGCTGA others(13): Show GGTGCTGAGTTCTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	20	c.94 others(29): Show c.941_*942insGTGCTGAGTTCTTTTTTTTT	HIGD2A	ENSG00000146066.3	transcript	ENST00000274787.3	protein_coding		678		chr5	TogoVar
HIGD2B_chr15_72670798_72691182	72674743	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01943.hp2 HG02109.hp1 others(17): Show HG01099.hp2 HG01943.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02615.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0019 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0003g0053	20	436	0.0459	20	c.13 others(31): Show c.1310_*1311insCCGTTCCTTCCTTCCTTCCT	HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding		1054		chr15	TogoVar
HIGD2B_chr15_72670798_72691182	72687124	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01978.hp1 HG02109.hp1 others(10): Show HG01517.hp2 HG01978.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG02970.hp1 HG03486.hp2 NA18971.hp1 NA19079.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0001	13	436	0.0298	20	c.-15 others(31): Show c.-1500_-1499insAAAAAAAAAAAAAAAAAAAA	HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding		943		chr15	TogoVar
HIGD2B_chr15_72670798_72691182	72688411	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03669.hp2 NA18977.hp2 HG02723.hp1 HG03669.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0120 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0120	3	436	0.0069	20	c.-28 others(31): Show c.-2806_-2787dupAAAAAAAAAAAAAAAAAAAA	HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding		2230		chr15	TogoVar
HIKESHI_chr11_86297240_86350943	86308559	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(147): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03041.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0365 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0003g0146	150	398	0.3769	20	c.268 others(37): Show c.268+2079_268+2098dupTTATTTATTTATTTATTTAT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01257.hp1 others(13): Show HG00558.hp2 HG00738.hp2 HG01257.hp1 HG02647.hp1 HG02735.hp2 HG02970.hp2 HG03017.hp2 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18942.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA19043.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0086 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0086 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0004g0250	16	398	0.0402	20	c.268 others(39): Show c.268+11822_268+11841dupAAAAAAAAAAAAAAAAAAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(13): Show CTTTTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp2 NA19240.hp1 HG02723.hp2 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0206 a0001c0001t0006g0052 a0001c0001t0006g0206	3	404	0.0074	20	c.182 others(37): Show c.182-1227_182-1226insCTTTTTTTTTTTTTTTTTTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	404	0.0025	20	c.182 others(37): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1_chr7_75528298_75743941	75551189	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0102 a0001c0002t0011g0102	1	254	0.0039	20	c.229 others(39): Show c.2296-2208_2296-2189dupAAAAAAAAAAAAAAAAAAAA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	22/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75595227	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	254	0.0039	20	c.185 others(37): Show c.185-2714_185-2713insGAAGGAAGGAAGGAAGGAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75595239	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02897.hp2 HG00639.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0198 a0001c0001t0015g0032 a0001c0001t0001g0198 a0001c0001t0015g0032	2	254	0.0079	20	c.185 others(37): Show c.185-2726_185-2725insGAAGGAAGGAAGGAAGGAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75682581	G G	GAAAACAA others(13): Show GAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0016 a0001c0001t0006 a0001c0003t0016	a0001c0001t0006g0025 a0001c0003t0016g0024 a0001c0001t0006g0025 a0001c0003t0016g0024	2	254	0.0079	20	c.120 others(39): Show c.120+56200_120+56219dupGTTTTGTTTTGTTTTGTTTT	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75740366	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03579.hp1 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0049 a0001c0001t0017g0047 a0001c0001t0003g0049 a0001c0001t0017g0047	2	254	0.0079	20	c.-14 others(31): Show c.-1447_-1446insACACACACACACACACACAC	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding		1426		chr7	TogoVar
HIP1_chr7_75528298_75743941	75743365	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0003 a0002c0004t0001g0003	1	254	0.0039	20	c.-44 others(31): Show c.-4446_-4445insGAGAGAGAGAGAGAGAGAGA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding		4425		chr7	TogoVar

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